From neural development to cognition: unexpected roles for chromatin
TLDR
Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains.Abstract:
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.read more
Citations
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An integer programming framework for inferring disease complexes from network data
TL;DR: An exact, integer-programming-based method for associating protein complexes with disease by scores proteins based on their proximity in a protein–protein interaction network to a prior set that is known to be relevant for the studied disease.
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Control of cerebral size and thickness
TL;DR: Recent views on intrinsic and extrinsic molecular determinants, including the role of epigenetic chromatin modifiers and microRNA, in the control of neuronal output in developing cortex and in the establishment of normal cortical architecture are discussed.
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Open chromatin dynamics reveals stage-specific transcriptional networks in hiPSC-based neurodevelopmental model.
Siwei Zhang,Winton Moy,Hanwen Zhang,Catherine Leites,Heather McGowan,Jianxin Shi,Alan R. Sanders,Zhiping P. Pang,Pablo V. Gejman,Jubao Duan,Jubao Duan +10 more
TL;DR: Novel insights are provided into the epigenetic control of glutamatergic neurogenesis in the context of TF networks, which may be instrumental to improving hiPSC modeling of neuropsychiatric disorders.
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Deep Genetic Connection Between Cancer and Developmental Disorders.
TL;DR: It is found that among DD patients, germline damaging de novo variants are more enriched in cancer driver genes than non‐drivers, indicating that many genes have a similar mode of action in cancer and DDs.
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Genetic architecture of cognitive traits.
TL;DR: In this review, what progress has been made in understanding the genetics of cognitive traits is examined, from studies that have identified single genes implicated in intellectual disabilities, through studies investigating the missing and hidden heritability of cognitive abilities in the general population, and finally to studies looking at "high intelligence" samples.
References
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
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Genome-wide maps of chromatin state in pluripotent and lineage-committed cells
Tarjei S. Mikkelsen,Manching Ku,Manching Ku,David B. Jaffe,Biju Issac,Biju Issac,Erez Lieberman Aiden,Erez Lieberman Aiden,Georgia Giannoukos,Pablo Alvarez,William Brockman,Tae Kyung Kim,Richard Koche,Richard Koche,Richard Koche,William Lee,Eric M. Mendenhall,Eric M. Mendenhall,Aisling O'Donovan,Aviva Presser,Carsten Russ,Xiaohui Xie,Alexander Meissner,Marius Wernig,Rudolf Jaenisch,Chad Nusbaum,Eric S. Lander,Eric S. Lander,Bradley E. Bernstein,Bradley E. Bernstein +29 more
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